Mutagenetix > Incidental Mutation

Incidental Mutation 'R7740:Tnfsf8'

596481

Institutional Source

Beutler Lab

Gene Symbol

Tnfsf8

Ensembl Gene

ENSMUSG00000028362

Gene Name

tumor necrosis factor (ligand) superfamily, member 8

Synonyms

CD153, CD30LG, Cd30L

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7740 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63831308-63861347 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63834446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 127 (H127Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030047]

AlphaFold

P32972

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030047
AA Change: H127Q

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030047
Gene: ENSMUSG00000028362
AA Change: H127Q

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
TNF	103	235	2.64e-27	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice diplay decreased susceptibility to graft versus host disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,731,261	V914A	probably damaging	Het
4930522L14Rik	G	A	5: 109,737,504	Q163*	probably null	Het
Anxa6	T	A	11: 55,007,899	T150S	probably damaging	Het
Bpifb6	T	A	2: 153,903,009	L45Q	probably damaging	Het
Brwd1	T	C	16: 96,027,368	D1121G	probably damaging	Het
C1ql3	A	G	2: 13,010,672	I59T	possibly damaging	Het
Ccdc80	A	G	16: 45,104,525	H674R	possibly damaging	Het
Cdhr1	T	G	14: 37,089,380	E258A	probably damaging	Het
Ces2g	T	A	8: 104,966,330	F333L	probably damaging	Het
Chn2	C	T	6: 54,300,171	T445I	probably benign	Het
Cpe	T	C	8: 64,597,528	D382G	possibly damaging	Het
Crb1	T	A	1: 139,237,690	I960L	probably benign	Het
Cyp4a14	A	T	4: 115,493,609	V156D	probably damaging	Het
Ddx23	A	T	15: 98,658,434	M1K	probably null	Het
Dnajc7	T	C	11: 100,591,561	I202V	probably benign	Het
Dsn1	T	A	2: 156,997,716	D255V	possibly damaging	Het
Dvl3	A	T	16: 20,527,250		probably null	Het
Epm2a	A	G	10: 11,390,940	D143G	possibly damaging	Het
Erc1	T	A	6: 119,761,188	M565L	probably benign	Het
Fancm	T	C	12: 65,126,547	C1878R	possibly damaging	Het
Gapvd1	T	C	2: 34,700,822	E946G	probably damaging	Het
Gm9195	C	T	14: 72,440,673	R2352K	possibly damaging	Het
Greb1	C	A	12: 16,740,121		probably benign	Het
Haus5	G	A	7: 30,663,253	A44V	possibly damaging	Het
Herc4	A	G	10: 63,269,678	Y146C	probably benign	Het
Herc6	T	G	6: 57,659,817		probably null	Het
Hivep2	G	T	10: 14,127,670	G4V	probably damaging	Het
Hsdl2	G	T	4: 59,612,724	G425V	probably damaging	Het
Igkv1-110	C	T	6: 68,270,990	L28F	probably benign	Het
Il21r	T	A	7: 125,632,555	L385Q	possibly damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Krtap5-2	C	T	7: 142,174,962	C149Y	unknown	Het
Lingo2	T	A	4: 35,709,248	N244I	probably damaging	Het
Lrrk2	C	T	15: 91,767,324	R1728C	probably damaging	Het
Macf1	A	G	4: 123,684,303		probably benign	Het
Malrd1	G	A	2: 15,614,215	V297I	not run	Het
Mars	T	A	10: 127,300,575	E460D	probably benign	Het
Nr1i3	A	G	1: 171,216,827	I174V	probably benign	Het
Odf2	C	T	2: 29,930,624	T814M	probably damaging	Het
Olfr1302	A	T	2: 111,780,448	I43F	possibly damaging	Het
Olfr1494	T	C	19: 13,749,964	V286A	probably benign	Het
Olfr728	T	C	14: 50,140,346	M98V	probably benign	Het
Pcdhga8	T	C	18: 37,727,417	S509P	probably benign	Het
Pdzd2	A	G	15: 12,374,016	L2011S	probably benign	Het
Pole	T	A	5: 110,331,041	S1930T	probably benign	Het
Poteg	T	A	8: 27,462,024		probably null	Het
Ptprk	T	A	10: 28,496,924	C724S	probably damaging	Het
Rabgap1l	T	C	1: 160,682,103	E468G	probably benign	Het
Rbm12b1	G	T	4: 12,145,954	R642L	probably benign	Het
S1pr4	A	T	10: 81,499,021	Y206*	probably null	Het
Sim2	A	G	16: 94,114,960	I261V	probably benign	Het
Slc22a12	C	A	19: 6,537,169	A448S	probably benign	Het
Slc4a2	A	G	5: 24,431,668		probably null	Het
Slc6a7	T	C	18: 61,000,423	E567G	possibly damaging	Het
St6gal1	T	C	16: 23,321,035		probably benign	Het
Syne3	T	C	12: 104,954,287	K550R	probably benign	Het
Tekt1	T	A	11: 72,359,718	T51S	probably benign	Het
Tm9sf4	T	A	2: 153,208,743	V640E	probably damaging	Het
Tomm20	A	G	8: 126,939,883	L80S	probably damaging	Het
Top2a	T	C	11: 98,993,814	D1526G	probably benign	Het
Trmt1l	T	C	1: 151,440,888	V200A	possibly damaging	Het
Trpa1	A	G	1: 14,912,401	V77A	possibly damaging	Het
Vmn2r12	A	T	5: 109,091,749	V316D	probably damaging	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Zfp2	T	C	11: 50,900,778	H146R	probably damaging	Het
Zfp52	T	C	17: 21,560,990	S367P	probably damaging	Het

Other mutations in Tnfsf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Tnfsf8	APN	4	63834510	splice site	probably benign
G1Funyon:Tnfsf8	UTSW	4	63860878	missense	probably benign	0.31
P0045:Tnfsf8	UTSW	4	63851167	splice site	probably benign
R0322:Tnfsf8	UTSW	4	63834166	missense	probably damaging	0.96
R1167:Tnfsf8	UTSW	4	63837086	missense	possibly damaging	0.55
R3821:Tnfsf8	UTSW	4	63860890	missense	probably benign	0.17
R3893:Tnfsf8	UTSW	4	63860959	missense	possibly damaging	0.86
R4154:Tnfsf8	UTSW	4	63834358	missense	probably benign	0.00
R4380:Tnfsf8	UTSW	4	63861027	nonsense	probably null
R4597:Tnfsf8	UTSW	4	63837100	missense	probably damaging	1.00
R7502:Tnfsf8	UTSW	4	63851161	missense	probably damaging	1.00
R8062:Tnfsf8	UTSW	4	63861195	start gained	probably benign
R8126:Tnfsf8	UTSW	4	63834186	missense	possibly damaging	0.94
R8301:Tnfsf8	UTSW	4	63860878	missense	probably benign	0.31
R8335:Tnfsf8	UTSW	4	63834115	missense	probably damaging	0.98
R9206:Tnfsf8	UTSW	4	63834213	missense	probably benign	0.25
R9208:Tnfsf8	UTSW	4	63834213	missense	probably benign	0.25
R9251:Tnfsf8	UTSW	4	63860980	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTTCTTACTCTGAACTCCAGAC -3'
(R):5'- CGCAGATGGTTTTATTCCTGTGAC -3'

Sequencing Primer
(F):5'- CTCACACACTGTTACCAACGTCTG -3'
(R):5'- TTCTAGAAAGGGTACTTCAGAAGATG -3'

Posted On

2019-11-26